Wednesday, 26 April 2017

Infertility: I don't wanna be cliché but here goes.

Infertility: I don't wanna be cliché but here goes.
   Tomorrow is my fourth wedding anniversary. I'm having a hard time believing it. I've been married for four years. I graduate college this week and we have almost everything ready to head out to California this fall for grad school. Life seems to be going really well, and it is, for the most part.

   My wife and I don't have kids, at least not human kids. We have our dog, muffler, he's the best, but he's the closest thing we have to a child. This was our decision for several years. We decided for a long time that we weren't ready for kids for many reasons, mostly financial, but other reasons as well. We were both happy with this decision for a long time, but sometime in the last year we decided, let's go for it.

  We didn't get pregnant right away. That's fine and normal, but after a few months we decided we'd talk with our doctor. He ordered several tests and even suggested that I take part in a UofU healthcare study for male fertility, I thought "meh" but then found out that they will pay me so I said "Sure!". Meeting with the doctor for the first time, we did blood work, ran other tests, and I gave a semen sample for them to analyze. This would be something I need to do every 3 months.

  I waited several weeks for the results of my test, but never suspected any problems to arise. I get the results and read an interesting analysis. My semen sample had a 0 sperm count. Not low, not dead, 0. For everyone who understand biology, that is bad. I immediately met with my doctor who referred me to a specialist, who referred me to an even more specialist. 4 doctors meetings later and a lot of money in co-pays I had a possible explanation. CBAVD, congenital bi-lateral absence of the vas deferens. Now for the rest of you who didn't study Human Anatomy let me explain. The vas deferens are small tubes that connect the testicles and the urethra. They are pretty much the male version of the Fallopian tubes. According to the specialist I didn't have them.

This is a problem.

  Not wanting to give a false diagnosis or jump the gun, she recommended that I go and get genetics testing done to see if I may be a carrier of some genetic problems that are attributed to CBAVD. I set an appointment and met with a genetic counselor. She explained the basics of genetics and how they work. We worked through my family tree identifying each member that may have fertility issues like me and at the end of it all they took some blood to do gene sequencing.

  I waited for about three weeks to hear anything. I was nervous but honestly excited, almost anything they could tell me would be news, and that's what I want. News, any news is good. I finally get the call and learn some really interesting things. It turns out that both of my parents are carriers of Cystic Fibrosis. I expected this to be followed with "and so am I". It wasn't.

I have Cystic Fibrosis.

  Let me explain that a bit further. By definition a diagnosis of cystic fibrosis is made when both CFTR genes are identified as having a mutation. But of mine do. One mutation is the most common very bad/deadly mutation. the other gene has a less common and much less life threatening mutation. We only use one set of genes, and by chance/luck/blessings? the gene that activated in my is the one with the less common mutation. This is great news for me. 

  In more than 70% of CF cases, the diagnosis is a death sentence. Current scientific treatments have extended patients life so that many live into their mid 30s with intensive daily therapy. I'm obviously in very good health and don't display the majority of these life threatening health conditions, so my doctor and geneticist both assured me that I should not be concerned or take the diagnosis to mean anything close to a death sentence. At the worst I may develop worse lung infections in latter life than my peers, but that will probably be the worst. This is all the good news.

   The bad news is that there is one symptom that is almost ubiquitous among all types of Cystic Fibrosis, CBAVD. For some reason evolution has decided that Cystic Fibrosis is horrible, justifiably so, and that no one with it should ever reproduce, again this is justified when comparing how bad CF can be. This means that I can't have children naturally. I "Shoot Blanks" to say it colloquially. This is not my wife's fault, nor mine. This is just a biological problem that I have. There is no one to blame, it's just how it is, and i'm coming to accept that.

  All of this being said, there is hope. I still produce sperm, they just have nowhere to go. They're just chilling down there having a party. With the advances in reproductive care I can actually get a biopsy to remove a large amount of sperm and use them to artificially inseminate an egg. Through IVF we can then be able to have our own biological children. This is fantastic news. We are really excited for this. This does come at a price of a ton of money, so we'll see when that happens. But I'm trying not to think of that right now.

  For all of my friends out there struggling to get pregnant. Get your husbands tested, it may save you a lot of heartache.